Mutation details:

Protein level identifier (NP_060575):

p.Gln97*

cDNA level identifier (NM_018105):

c.289C>T

Gene level identifier:

g.5011C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

8:42693458 (not available on ExAC)

Gene name:

THAP1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).